Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.V525V
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BRCA1

NM_007294.4:p.V525V

Associated Papers

The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.

Fierheller CT et al.

Cancers, 2021

34298626 (PubMed )
Supplement: cancers-13-03406-s001.zip › cancers-1247507-supplementary › Supplementary_Tables_V12_18062021_REFs.xlsx › Supp_Table_2

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

Minucci A et al.

Expert Review of Molecular Diagnostics, 2015

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

Jalkh N et al.

Hereditary Cancer in Clinical Practice, 2012

Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population.

Mahfoudh W et al.

Molecular Biology Reports, 2012

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM et al.

Human Mutation, 2012

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers.

Miolo G et al.

Bmc Cancer, 2009

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

Caligo MA et al.

Human Mutation, 2009

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.

Miramar MD et al.

Breast Cancer Research and Treatment, 2008

Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.

Osorio A et al.

Human Mutation, 2007

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

van der Hout AH et al.

Human Mutation, 2006

Y179C, F486L and N550H are BRCA1 variants that may be associated with breast cancer in a Sicilian family: results of a 5-year GOIM (Gruppo Oncologico dell'Italia Meridionale) prospective study.

Augello C et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2006

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

Tavtigian SV et al.

Journal of Medical Genetics, 2006

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O et al.

Human Mutation, 2003

Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

Eng C et al.

Journal of Medical Genetics, 2001

[Mutational analysis of breast/ovarian cancer hereditary predisposition gene BRCA1 in Tunisian women].

Mestiri S et al.

Archives De L'institut Pasteur De Tunis, 2000

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